KPNA7
geneOn this page
Also known as IPOA8
Summary
KPNA7 (karyopherin subunit alpha 7, HGNC:21839) is a protein-coding gene on chromosome 7q22.1, encoding Importin subunit alpha-8 (A9QM74). Functions in nuclear protein import.
The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5.
Source: NCBI Gene 402569 — RefSeq curated summary.
At a glance
- Gene–disease (curated): oocyte/zygote/embryo maturation arrest 17 (Strong, GenCC) — +3 more curated relationships
- Clinical variants (ClinVar): 553 total — 2 pathogenic
- Phenotypes (HPO): 4
- MANE Select transcript:
NM_001145715
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21839 |
| Approved symbol | KPNA7 |
| Name | karyopherin subunit alpha 7 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IPOA8 |
| Ensembl gene | ENSG00000185467 |
| Ensembl biotype | protein_coding |
| OMIM | 614107 |
| Entrez | 402569 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000327442, ENST00000681060, ENST00000893183, ENST00000893184
RefSeq mRNA: 1 — MANE Select: NM_001145715
NM_001145715
CCDS: CCDS47651
Canonical transcript exons
ENST00000327442 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001293168 | 99195070 | 99195338 |
| ENSE00001296710 | 99177920 | 99178066 |
| ENSE00001302397 | 99196084 | 99196166 |
| ENSE00001304989 | 99184929 | 99185162 |
| ENSE00001311627 | 99207401 | 99207489 |
| ENSE00001312636 | 99193019 | 99193101 |
| ENSE00001316188 | 99181883 | 99182065 |
| ENSE00001325308 | 99203106 | 99203240 |
| ENSE00001328201 | 99188300 | 99188563 |
| ENSE00001618379 | 99173572 | 99173794 |
| ENSE00003912445 | 99208028 | 99208115 |
Expression profiles
Bgee: expression breadth broad, 52 present calls, max score 89.41.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0497 / max 10.1642, expressed in 17 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85089 | 0.0279 | 8 |
| 85088 | 0.0218 | 7 |
Top tissues by expression
118 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.41 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 64.92 | gold quality |
| islet of Langerhans | UBERON:0000006 | 64.21 | gold quality |
| right uterine tube | UBERON:0001302 | 63.11 | gold quality |
| gall bladder | UBERON:0002110 | 55.03 | gold quality |
| esophagus mucosa | UBERON:0002469 | 53.35 | gold quality |
| body of stomach | UBERON:0001161 | 52.62 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 52.21 | gold quality |
| stomach | UBERON:0000945 | 51.29 | gold quality |
| fallopian tube | UBERON:0003889 | 49.96 | gold quality |
| liver | UBERON:0002107 | 47.44 | gold quality |
| pancreas | UBERON:0001264 | 47.35 | gold quality |
| colonic epithelium | UBERON:0000397 | 45.23 | gold quality |
| right lobe of liver | UBERON:0001114 | 44.88 | silver quality |
| duodenum | UBERON:0002114 | 44.72 | gold quality |
| mucosa of stomach | UBERON:0001199 | 44.07 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 43.47 | gold quality |
| rectum | UBERON:0001052 | 42.24 | gold quality |
| lung | UBERON:0002048 | 41.81 | gold quality |
| minor salivary gland | UBERON:0001830 | 41.41 | gold quality |
| placenta | UBERON:0001987 | 40.80 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 40.61 | gold quality |
| urinary bladder | UBERON:0001255 | 40.49 | silver quality |
| right lung | UBERON:0002167 | 40.31 | silver quality |
| esophagus | UBERON:0001043 | 39.70 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 39.56 | silver quality |
| tonsil | UBERON:0002372 | 39.18 | silver quality |
| transverse colon | UBERON:0001157 | 38.94 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 38.51 | gold quality |
| vermiform appendix | UBERON:0001154 | 38.12 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
10 targeting KPNA7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-3940-5P | 99.14 | 65.26 | 493 |
| HSA-MIR-4507 | 99.14 | 65.27 | 515 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
| HSA-MIR-513B-3P | 98.76 | 68.12 | 1577 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
Literature-anchored findings (GeneRIF, showing 7)
- Our data show that compound heterozygous mutations in KPNA7 are associated with a human neurodevelopmental disease, and provide the first example of a human disease associated with mutation of a nuclear transport receptor. (PMID:24045845)
- KPNA7 silencing inhibits the malignant properties of pancreatic cancer cells in vitro and thereby provide the first evidence on the functional role for KPNA7 in human cancer. (PMID:24275456)
- Bel1 fragment with residues 215-223, which bears the NLS, interacts with KPNA1, KPNA6, and KPNA7. (PMID:25272585)
- KPNA7 binding and nuclear transfer was validated for two proteins, MVP and ZNF414. MVP and ZNF414 have a key role in the regulation of pancreatic cancer cell growth. (PMID:27664836)
- KPNA7 has a critical role in the regulation of mitosis through the proper organization of the mitotic spindle and acts in the maintenance of the nuclear envelope structure and nuclear morphology. (PMID:29580221)
- KPNA7, an isoform with expression mostly limited to early development, can bind Importin-beta (Imp-beta) in the absence of NLS cargo. (PMID:31642884)
- An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding. (PMID:32179771)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kpna7 | ENSDARG00000027169 |
| mus_musculus | Kpna7 | ENSMUSG00000038770 |
| rattus_norvegicus | Kpna7 | ENSRNOG00000042296 |
| caenorhabditis_elegans | WBGENE00002072 | |
| caenorhabditis_elegans | WBGENE00009956 |
Paralogs (6): KPNA6 (ENSG00000025800), KPNA3 (ENSG00000102753), KPNA1 (ENSG00000114030), KPNA2 (ENSG00000182481), KPNA4 (ENSG00000186432), KPNA5 (ENSG00000196911)
Protein
Protein identifiers
Importin subunit alpha-8 — A9QM74 (reviewed: A9QM74)
Alternative names: Karyopherin subunit alpha-7
All UniProt accessions (1): A9QM74
UniProt curated annotations — full annotation on UniProt →
Function. Functions in nuclear protein import.
Subunit / interactions. Binds very efficiently to importin subunit beta-1/KPNB1 via the IBB domain; this complex dissociates in the presence of RAN-GTP. Shows a limited binding to the RB1 nuclear localization signal (NLS), but not to the SV40, nor NPM1 NLSs. Interacts with RSL1D1.
Subcellular location. Nucleus.
Disease relevance. Oocyte/zygote/embryo maturation arrest 17 (OZEMA17) [MIM:620319] A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development or cannot establish pregnancy after implantation. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the importin alpha family.
RefSeq proteins (1): NP_001139187* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000225 | Armadillo | Repeat |
| IPR002652 | Importin-a_IBB | Domain |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR024931 | Importin_alpha | Family |
| IPR032413 | Arm_3 | Repeat |
| IPR036975 | Importin-a_IBB_sf | Homologous_superfamily |
Pfam: PF00514, PF01749, PF16186
UniProt features (14 total): repeat 8, sequence variant 4, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A9QM74-F1 | 85.26 | 0.75 |
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-1169408 | ISG15 antiviral mechanism |
| R-HSA-168276 | NS1 Mediated Effects on Host Pathways |
| R-HSA-9918432 | Maturation of DENV proteins |
| R-HSA-1169410 | Antimicrobial mechanism of IFN-stimulated genes |
| R-HSA-1280215 | Cytokine Signaling in Immune system |
| R-HSA-1643685 | Disease |
| R-HSA-168255 | Influenza Infection |
| R-HSA-168256 | Immune System |
| R-HSA-5663205 | Infectious disease |
| R-HSA-913531 | Interferon Signaling |
| R-HSA-9824446 | Viral Infection Pathways |
MSigDB gene sets: 79 (showing top):
GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_TRANSPORT, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_BLASTOCYST_DEVELOPMENT, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NLS_BEARING_PROTEIN_IMPORT_INTO_NUCLEUS, GOBP_EMBRYO_DEVELOPMENT, GOBP_CHROMATIN_REMODELING, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEUS, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOCC_SPINDLE, GOMF_SIGNAL_SEQUENCE_BINDING
GO Biological Process (7): blastocyst development (GO:0001824), protein import into nucleus (GO:0006606), NLS-bearing protein import into nucleus (GO:0006607), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), epigenetic regulation of gene expression (GO:0040029), protein transport (GO:0015031)
GO Molecular Function (3): nuclear localization sequence binding (GO:0008139), nuclear import signal receptor activity (GO:0061608), protein binding (GO:0005515)
GO Cellular Component (7): female germ cell nucleus (GO:0001674), nucleus (GO:0005634), nucleoplasm (GO:0005654), spindle (GO:0005819), cytosol (GO:0005829), NLS-dependent protein nuclear import complex (GO:0042564), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| Antimicrobial mechanism of IFN-stimulated genes | 1 |
| Influenza Infection | 1 |
| Dengue Virus Genome Translation and Replication | 1 |
| Interferon Signaling | 1 |
| Immune System | 1 |
| Viral Infection Pathways | 1 |
| Disease | 1 |
| Cytokine Signaling in Immune system | 1 |
| Infectious disease | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of gene expression | 3 |
| cellular anatomical structure | 3 |
| import into nucleus | 2 |
| gene expression | 2 |
| in utero embryonic development | 1 |
| anatomical structure development | 1 |
| intracellular protein transport | 1 |
| protein localization to nucleus | 1 |
| establishment of protein localization to organelle | 1 |
| protein import into nucleus | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| chromatin remodeling | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| signal sequence receptor activity | 1 |
| nucleocytoplasmic carrier activity | 1 |
| binding | 1 |
| germ cell nucleus | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| microtubule cytoskeleton | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| nucleocytoplasmic transport complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2109 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KPNA7 | IL1F10 | Q8WWZ1 | 838 |
| KPNA7 | BTN3A1 | O00481 | 777 |
| KPNA7 | MUC3A | Q02505 | 712 |
| KPNA7 | FOXP1 | Q9H334 | 695 |
| KPNA7 | SMURF1 | Q9HCE7 | 676 |
| KPNA7 | A0A3B3IT14 | A0A3B3IT14 | 654 |
| KPNA7 | NPM2 | Q86SE8 | 622 |
| KPNA7 | KPNB1 | Q14974 | 575 |
| KPNA7 | IPO13 | O94829 | 485 |
| KPNA7 | TNPO2 | O14787 | 472 |
| KPNA7 | CSE1L | P55060 | 437 |
| KPNA7 | IPO4 | Q8TEX9 | 436 |
| KPNA7 | TNPO1 | Q92973 | 435 |
| KPNA7 | IPO11 | Q9UI26 | 433 |
| KPNA7 | XPO1 | O14980 | 432 |
| KPNA7 | IPO7 | O95373 | 432 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KPNB1 | KPNA7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CDC45 | KPNA7 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (10): KPNA7 (Affinity Capture-Western), KPNA7 (Reconstituted Complex), USP1 (Affinity Capture-Western), KPNA7 (Affinity Capture-MS), KPNA7 (Affinity Capture-MS), KPNA7 (Affinity Capture-MS), KPNA7 (Cross-Linking-MS (XL-MS)), KPNA7 (Affinity Capture-MS), KPNA7 (Affinity Capture-Western), KPNA7 (Reconstituted Complex)
ESM2 similar proteins: A2BFL2, A9QM74, B6HJ92, B8ARW2, B9FDR3, C0LLJ0, C1JZ66, C6K7I2, F4JL11, G5EB89, O00505, O00629, O04294, O14063, O14089, O22478, O35343, O35344, O43747, O60518, O75843, O80480, O88512, O94374, P22892, P52170, P52171, P52292, P52293, P52295, P91276, Q02821, Q19969, Q23924, Q557F4, Q5R5M2, Q5RAG3, Q6DGR4, Q71VM4, Q76P29
Diamond homologs: A2VE08, A9QM74, B6HJ92, C0LLJ0, C1JZ66, C6K7I2, F4JL11, G5EB89, O00505, O00629, O04294, O14063, O15131, O22478, O35343, O35344, O35345, O60684, O80480, O94374, P52170, P52171, P52292, P52293, P52294, P52295, P83953, P91276, Q02821, Q0V7M0, Q19969, Q503E9, Q557F4, Q56R16, Q5R909, Q5RBV0, Q5ZML1, Q60960, Q71VM4, Q76P29
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
553 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 299 |
| Likely benign | 227 |
| Benign | 17 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2498074 | NM_001145715.3(KPNA7):c.523C>A (p.Gln175Lys) | Pathogenic |
| 2498075 | NM_001145715.3(KPNA7):c.1350_1356del (p.Leu450_Cys451insTer) | Pathogenic |
SpliceAI
1975 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:99177915:CTTA:C | donor_loss | 1.0000 |
| 7:99177916:TTA:T | donor_loss | 1.0000 |
| 7:99177917:TACCT:T | donor_loss | 1.0000 |
| 7:99177918:A:AC | donor_gain | 1.0000 |
| 7:99177918:A:T | donor_loss | 1.0000 |
| 7:99177918:ACCT:A | donor_gain | 1.0000 |
| 7:99177919:C:CC | donor_gain | 1.0000 |
| 7:99177919:C:CG | donor_loss | 1.0000 |
| 7:99177919:CCT:C | donor_gain | 1.0000 |
| 7:99177919:CCTC:C | donor_gain | 1.0000 |
| 7:99177919:CCTCA:C | donor_gain | 1.0000 |
| 7:99178063:CCGC:C | acceptor_gain | 1.0000 |
| 7:99178064:CGC:C | acceptor_gain | 1.0000 |
| 7:99178064:CGCC:C | acceptor_gain | 1.0000 |
| 7:99178067:C:CA | acceptor_loss | 1.0000 |
| 7:99178068:T:G | acceptor_loss | 1.0000 |
| 7:99181881:A:C | donor_loss | 1.0000 |
| 7:99181882:C:CA | donor_loss | 1.0000 |
| 7:99184927:A:AC | donor_gain | 1.0000 |
| 7:99184928:C:CC | donor_gain | 1.0000 |
| 7:99193014:CTTA:C | donor_loss | 1.0000 |
| 7:99193015:TTA:T | donor_loss | 1.0000 |
| 7:99193016:TA:T | donor_loss | 1.0000 |
| 7:99193017:A:AC | donor_gain | 1.0000 |
| 7:99193018:C:CC | donor_gain | 1.0000 |
| 7:99193018:C:CT | donor_loss | 1.0000 |
| 7:99193018:CCGG:C | donor_gain | 1.0000 |
| 7:99193098:TCAC:T | acceptor_gain | 1.0000 |
| 7:99193099:CAC:C | acceptor_gain | 1.0000 |
| 7:99193099:CACC:C | acceptor_gain | 1.0000 |
AlphaMissense
3354 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:99188517:C:G | R228P | 0.998 |
| 7:99195091:A:G | W178R | 0.998 |
| 7:99195091:A:T | W178R | 0.998 |
| 7:99195198:G:T | A142D | 0.998 |
| 7:99195203:G:C | N140K | 0.998 |
| 7:99195203:G:T | N140K | 0.998 |
| 7:99195217:A:G | W136R | 0.998 |
| 7:99195217:A:T | W136R | 0.998 |
| 7:99196084:C:A | R95M | 0.998 |
| 7:99188539:A:G | W221R | 0.997 |
| 7:99188539:A:T | W221R | 0.997 |
| 7:99195077:A:C | N182K | 0.997 |
| 7:99195077:A:T | N182K | 0.997 |
| 7:99195089:C:A | W178C | 0.997 |
| 7:99195089:C:G | W178C | 0.997 |
| 7:99195210:A:G | L138P | 0.997 |
| 7:99195215:C:A | W136C | 0.997 |
| 7:99195215:C:G | W136C | 0.997 |
| 7:99196084:C:G | R95T | 0.997 |
| 7:99195081:C:A | G181V | 0.996 |
| 7:99195081:C:T | G181D | 0.996 |
| 7:99195207:G:A | T139I | 0.996 |
| 7:99195223:C:G | A134P | 0.996 |
| 7:99195338:C:A | R95S | 0.996 |
| 7:99195338:C:G | R95S | 0.996 |
| 7:99188523:A:G | L226P | 0.995 |
| 7:99188537:C:A | W221C | 0.995 |
| 7:99188537:C:G | W221C | 0.995 |
| 7:99193082:T:A | R191S | 0.995 |
| 7:99193082:T:G | R191S | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000056042 (7:99177718 G>A,C), RS1000061479 (7:99146045 C>T), RS1000092358 (7:99155858 C>T), RS1000114036 (7:99193099 C>T), RS1000150910 (7:99155541 G>A), RS1000161853 (7:99219466 T>A), RS1000185854 (7:99204449 T>C), RS1000248931 (7:99198705 C>A), RS1000254627 (7:99161801 C>T), RS1000274577 (7:99216925 G>A), RS1000280057 (7:99145793 T>C), RS1000317477 (7:99209557 C>G,T), RS1000335137 (7:99187616 C>A,T), RS1000363290 (7:99167021 T>G), RS1000372701 (7:99172890 C>T)
Disease associations
OMIM: gene MIM:614107 | disease phenotypes: MIM:620319
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| oocyte/zygote/embryo maturation arrest 17 | Strong | Autosomal recessive |
| neurodevelopmental disorder | Moderate | Autosomal recessive |
| partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| epilepsy | Limited | AR |
Mondo (3): oocyte/zygote/embryo maturation arrest 17 (MONDO:0957220), partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome (MONDO:0018430), neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000141 | Amenorrhea |
| HP:0008222 | Female infertility |
| HP:0011462 | Young adult onset |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| fluorene-9-bisphenol | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Atorvastatin | decreases reaction, increases expression | 1 |
| Cadmium | increases expression | 1 |
| Ivermectin | decreases reaction, increases expression | 1 |
| Mustard Gas | increases expression | 1 |
| Poly I-C | decreases reaction, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
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Related Atlas pages
- Associated diseases: oocyte/zygote/embryo maturation arrest 17, partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome, neurodevelopmental disorder, epilepsy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): oocyte/zygote/embryo maturation arrest 17, partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome